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Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R, Gibbons E, Tábuas-Pereira M, Kun-Rodrigues C, Santo GC, Bras J. Guerreiro R, et al. Among authors: santo gc. Neurobiol Dis. 2020 Aug;142:104946. doi: 10.1016/j.nbd.2020.104946. Epub 2020 May 19. Neurobiol Dis. 2020. PMID: 32439597 Free PMC article. Review.
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.
Messerschmidt C, Foddis M, Blumenau S, Müller S, Bentele K, Holtgrewe M, Kun-Rodrigues C, Alonso I, do Carmo Macario M, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Senatore A, Berchtold D, Winek K, Meisel A, Pavlovic A, Kostic V, Dobricic V, Lohmann E, Hanagasi H, Guven G, Bilgic B, Bras J, Guerreiro R, Beule D, Dirnagl U, Sassi C. Messerschmidt C, et al. Sci Rep. 2021 Mar 16;11(1):6072. doi: 10.1038/s41598-021-84919-x. Sci Rep. 2021. PMID: 33727568 Free PMC article.
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.
Carneiro DR, Rebelo O, Matos A, Baldeiras I, Almendra L, Fernandes C, Negrão L, Almeida MR, Matias F, Brás J, Guerreiro R, Santo GC. Carneiro DR, et al. Among authors: santo gc. Neuromuscul Disord. 2021 Sep;31(9):891-895. doi: 10.1016/j.nmd.2021.05.001. Epub 2021 May 14. Neuromuscul Disord. 2021. PMID: 34210540
Mutant ADA2 in vasculopathies.
Bras J, Guerreiro R, Santo GC. Bras J, et al. Among authors: santo gc. N Engl J Med. 2014 Jul 31;371(5):478-80. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25075847 No abstract available.
SQSTM1 gene as a potential genetic modifier of CADASIL phenotype.
Almeida MR, Silva AR, Elias I, Fernandes C, Machado R, Galego O, Santo GC. Almeida MR, et al. Among authors: santo gc. J Neurol. 2021 Apr;268(4):1453-1460. doi: 10.1007/s00415-020-10308-5. Epub 2020 Nov 20. J Neurol. 2021. PMID: 33216222
Familial Sneddon's syndrome.
Mascarenhas R, Santo G, Gonçalo M, Ferro MA, Tellechea O, Figueiredo A. Mascarenhas R, et al. Eur J Dermatol. 2003 May-Jun;13(3):283-7. Eur J Dermatol. 2003. PMID: 12804991
Phospholipase A2 and Ischemic Stroke Etiology.
Ramos-Lopes J, Varela R, Pascoal R, Rodrigues F, Coelho J, Almendra L, Duque C, Rodrigues B, Machado C, Nunes C, Carmo-Macário M, Santo G, Silva F, Sargento-Freitas J. Ramos-Lopes J, et al. Neurologist. 2021 Mar 4;26(2):32-35. doi: 10.1097/NRL.0000000000000329. Neurologist. 2021. PMID: 33646986
61 results